Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglyc... |
OMIM:232700 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Elevated gamma-glutamyltransf... |
OMIM:614480 |
Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Skin rash, Hypertriglyceridemia, Splenomegaly, Hepatomegaly |
OMIM:619175 |
Acropectorovertebral Dysplasia |
|
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Abn... |
OMIM:102510 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... |
OMIM:619868 |
Scheuermann Disease |
|
Osteochondrosis, Morbus Scheuermann, Kyphosis |
OMIM:181440 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Joint stiffness, Abn... |
ORPHA:2064 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Increased LDL cholesterol conce... |
OMIM:615703 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Dwarfism With Tall Vertebrae |
|
Increased vertebral height |
OMIM:126950 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... |
OMIM:610717 |
Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... |
OMIM:118005 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Hyper... |
OMIM:612526 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus |
ORPHA:436182 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Rod-cone dystrophy, Hypogonadism, Hydrocephalus, Microphthalmia, Cryptorchidism, Retinal coloboma |
OMIM:601794 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Erysipelas, Neonatal cholestatic liver diseas... |
OMIM:214900 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperargininemia, Hypercholesterolemia, Conjugated hyperbilirubinemia, Hyperthreo... |
OMIM:605814 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... |
OMIM:616829 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:619874 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Ambiguous genitalia, Aplasia/hypoplasia of the femur, Micrognathia, Disl... |
ORPHA:2839 |
Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatine kinase concentrati... |
OMIM:232400 |
Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, H... |
OMIM:306000 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Hyperbilirubinemia, Elevat... |
OMIM:620010 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr... |
ORPHA:369 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hepatic steat... |
ORPHA:280356 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc... |
OMIM:603471 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... |
OMIM:619662 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, S... |
ORPHA:75234 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Microphthalmia, Cryptorchidism, Re... |
ORPHA:363741 |
Primary Basilar Invagination |
|
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology |
ORPHA:2285 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Impaired glucose tolerance, Type II diabetes mellitus, Gout, Increased LDL cholesterol concentrat... |
OMIM:610947 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Rotor Syndrome |
|
Intermittent jaundice, Storage in hepatocytes, Jaundice, Hyperbilirubinemia, Abnormal circulating... |
ORPHA:3111 |
Spondylosis, Cervical |
|
Spondylolysis, Cervical spondylosis, Spina bifida occulta, Spondylolisthesis, Osteoarthritis |
OMIM:184300 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Spina bifida occulta, Cervical segmentation defect, Shoulder musc... |
OMIM:184400 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... |
OMIM:609813 |
Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Hypertriglyceridemia, Pancreatitis |
OMIM:246650 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Folliculitis, Hepatitis, Erythema nodosum, Inflammation of the large intestine, Increased circula... |
OMIM:300635 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus |
OMIM:613877 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Jaundice, Elevated... |
OMIM:619658 |
Sirenomelia |
|
Spina bifida, Aplasia/Hypoplasia of the radius, Sirenomelia, Absence of the sacrum |
ORPHA:3169 |
Lysosomal Acid Lipase Deficiency |
|
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Splenomegaly, Hepatic ... |
OMIM:278000 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic failure, Hepatic fibrosis, Increased total iron binding capacity, Jaundice, Hyperbilirubi... |
OMIM:616278 |
Crigler-Najjar Syndrome Type 1 |
|
Abnormality of the liver, Unconjugated hyperbilirubinemia, Biliary tract abnormality, Neonatal hy... |
ORPHA:79234 |
Bresek Syndrome |
|
Alopecia, Convex nasal ridge, Plagiocephaly, Low-set ears, Hydrocephalus, Intrauterine growth ret... |
ORPHA:85284 |
Microphthalmia, Isolated 8 |
|
Short palpebral fissure, Anophthalmia, Hypoplastic optic chiasm, Entropion, Optic nerve hypoplasi... |
OMIM:615113 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, High palate, Prominent nose, Wide nasal bridge, Macrocephaly, Bulbous nose... |
ORPHA:2180 |
Orofaciodigital Syndrome Ix |
|
Short tibia, High palate, Toe syndactyly, Hand polydactyly, Camptodactyly, Median cleft lip, Acce... |
OMIM:258865 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Prolonged neonatal jaundice, Increase... |
ORPHA:446 |
Acrodysplasia Scoliosis |
|
Spina bifida occulta, Vertebral segmentation defect, Scoliosis, Brachydactyly |
ORPHA:2956 |
Dubin-Johnson Syndrome |
|
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality |
OMIM:237500 |
African Iron Overload |
|
Hepatic fibrosis, Increased circulating cortisol level, Hepatitis, Elevated transferrin saturatio... |
ORPHA:139507 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Glycogen Storage Disease Ixc |
|
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Bile ... |
OMIM:613027 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Hyperlipidemia, Hepatomegaly, Insulin-resistant diabetes m... |
ORPHA:79085 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor... |
OMIM:277300 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly |
OMIM:615924 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Diabetes mellitus, Hyperammone... |
OMIM:271500 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... |
OMIM:610017 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Spina bifida, Toe syndactyly, Abnormal vertebral morphology, Spina bifida occu... |
ORPHA:64754 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis |
OMIM:613702 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Scoliosis, Hemivertebrae |
OMIM:616566 |
Coloboma Of Macula And Skeletal Anomalies |
|
Genu valgum, Coxa valga, Hallux valgus, Recurrent patellar dislocation, Cleft palate, Macular col... |
OMIM:216800 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Insulin resistance, Elevated circulating creatine kinas... |
OMIM:615980 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Restricted large joint movement, Abnormal vertebral morphology, Platyspo... |
ORPHA:163665 |
Al Kaissi Syndrome |
|
Sacral dimple, Brachycephaly, Decreased head circumference, Long philtrum, Wide nasal bridge, Sho... |
OMIM:617694 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
Niemann-Pick Disease, Type B |
|
Decreased acid sphingomyelinase activity, Increased LDL cholesterol concentration, Decreased HDL ... |
OMIM:607616 |
X-Linked Intellectual Disability, Siderius Type |
|
Cleft upper lip, Preaxial hand polydactyly, Decreased testicular size, Synophrys, Cryptorchidism,... |
ORPHA:85287 |
Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia |
ORPHA:79235 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short thorax, Vertebral segmentation defect, Missing ribs, Posterior rib fusion, A... |
ORPHA:1797 |
Osteomesopyknosis |
|
Kyphosis, Increased bone mineral density, Scoliosis, Sclerotic vertebral body, Abnormal form of t... |
ORPHA:2777 |
Galactosialidosis |
|
Abnormality of the vertebral column, Abnormal vertebral morphology |
ORPHA:351 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated alkaline phosphatase of bone origin, Cirrhosis, Hepatic failure, Cholestatic liver disea... |
OMIM:616828 |
Kapur-Toriello Syndrome |
|
Camptodactyly of finger, Cleft upper lip, Joint contracture of the hand, Clinodactyly of the 5th ... |
OMIM:244300 |
Osteoarthritis With Mild Chondrodysplasia |
|
Irregular vertebral endplates, Hip osteoarthritis, Heberden's node, Platyspondyly, Beaking of ver... |
OMIM:604864 |
Iniencephaly |
|
Hyperlordosis, Spinal dysraphism, Encephalocele, Myelomeningocele, Mandibular aplasia, Rhizomelia... |
ORPHA:63259 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cirrhosis, Increased serum iron, Elevated transferrin saturation, Elevated hepa... |
OMIM:613313 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Skin rash, Jaundice, Increased circulating ferritin concentration, Hepatomegaly, ... |
OMIM:603552 |
Frontal Encephalocele |
|
Spina bifida, Hydrocephalus, Encephalocele |
ORPHA:1931 |
Hemochromatosis, Neonatal |
|
Hepatic failure, Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hepatocellular nec... |
OMIM:231100 |
Acrocallosal Syndrome |
|
Tapered finger, Coloboma, Optic atrophy, Epicanthus, Toe syndactyly, Everted upper lip vermilion,... |
OMIM:200990 |
Pyle Disease |
|
Thin bony cortex, Genu valgum, Mandibular prognathia, Thickened calvaria, Hypoplastic frontal sin... |
OMIM:265900 |
Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida, Bifid sternum |
ORPHA:63260 |
Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Hyperuricemia, Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Insulin... |
OMIM:604367 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal antihelix morphology, Vertebral fusion, Mandibular prognathia, Plagiocephaly, Patellar d... |
ORPHA:2916 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Lipodystrophy, Familial Partial, Type 1 |
|
Acute pancreatitis, Insulin-resistant diabetes mellitus, Hepatomegaly, Hyperglycemia, Hypertrigly... |
OMIM:608600 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elev... |
ORPHA:567983 |
Lipodystrophy, Familial Partial, Type 5 |
|
Increased C-peptide level, Diabetic ketoacidosis, Hepatic steatosis, Hepatomegaly, Hypertriglycer... |
OMIM:615238 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Unc... |
OMIM:210500 |
Facial Clefting, Oblique, 1 |
|
Talipes calcaneovalgus, Cleft upper lip, Coloboma, Microphthalmia, Cleft palate, Deep palmar crease |
OMIM:600251 |
Trichodentoosseous Syndrome |
|
Widely spaced teeth, Increased bone mineral density, Microdontia, Taurodontia, Dolichocephaly, Fr... |
OMIM:190320 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Steatorrhea,... |
OMIM:607765 |
Gorlin Syndrome |
|
Brachycephaly, Vertebral fusion, Mandibular prognathia, Wide nasal bridge, Vertebral wedging, Abn... |
ORPHA:377 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Increased serum bile acid concentra... |
OMIM:619256 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Brachycephaly, Genu valgum, Mandibular prognathia, Plagiocephaly, Long philtrum, Short stature, T... |
OMIM:619721 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Hepatic steatosis, Elevated hepatic transaminase, Mildly elevated creatine kinase |
OMIM:618400 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Brachycephaly, Synophrys, Midface retrusion, Delayed skeletal maturation... |
ORPHA:1327 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Elevated hepatic transaminase, Hyperlipidemia |
ORPHA:329249 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... |
OMIM:613812 |
Edinburgh Malformation Syndrome |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:129850 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance |
OMIM:144600 |
Neural Tube Defects, Susceptibility To |
|
Sacral dimple, Myelomeningocele, Absence of the sacrum, Anencephaly, Hydrocephalus, Spina bifida ... |
OMIM:182940 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest... |
OMIM:207750 |
Second Metatarsal-Metacarpal Syndrome |
|
Synostosis of carpals/tarsals, Platyspondyly |
OMIM:269630 |
Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Hydrocephalus, Holoprosencephaly, Talipes, Po... |
ORPHA:945 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Hyperbilirubinemia, Splenomegaly, Hepatomegaly |
OMIM:237800 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Jaundice, Conjugated hyperbilirubinemia |
OMIM:237550 |
Jaundice, Familial Obstructive, Of Infancy |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:308600 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia, Jaundice |
OMIM:606785 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia, Jaundice |
OMIM:237900 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Increased LDL cholesterol concentration, Ch... |
ORPHA:209902 |
Hyperbilirubinemia, Rotor Type |
|
Jaundice, Conjugated hyperbilirubinemia |
OMIM:237450 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia, Coloboma, Orbital cyst |
OMIM:251505 |
Brachydactyly, Type B1 |
|
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Delayed cranial suture closure, Wi... |
OMIM:113000 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Slender long bone, Hip dislocation, Limitation of joint mobility, Spina bifida occulta, Hypoplast... |
ORPHA:2840 |
Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, P... |
ORPHA:93403 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Vertebral clefting, Brachycephaly, Stapes ankylosis, Skull asymmetry, Wide nasal bridge, Synophry... |
OMIM:614701 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Steatorrhea, Intrah... |
OMIM:235555 |
Ritscher-Schinzel Syndrome 2 |
|
Clinodactyly, Camptodactyly, Short philtrum, Overlapping toe, Broad hallux, Syndactyly, Protrudin... |
OMIM:300963 |
Becker Nevus Syndrome |
|
Kyphosis, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Upper limb asymmetry, Abnor... |
ORPHA:64755 |
White Forelock With Malformations |
|
Finger syndactyly, Clinodactyly of the 5th finger, Spina bifida occulta, Joint hyperflexibility, ... |
ORPHA:2475 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, Short neck, Scoliosis, Tars... |
OMIM:618469 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Abnormal sacrum morphology |
ORPHA:1436 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia, Jaundice |
OMIM:218800 |
Acrofacial Dysostosis, Palagonia Type |
|
Micrognathia, Midface retrusion, Spina bifida occulta, Short neck, Delayed skeletal maturation, S... |
ORPHA:1787 |
Anophthalmia Plus Syndrome |
|
Non-midline cleft lip, Anophthalmia, Spina bifida, Blepharophimosis, Iris coloboma, Eyelid colobo... |
ORPHA:1104 |
Lipe-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Elevated circulating creatine kinase concentration, Hepatic steatosis, Hyperl... |
ORPHA:435660 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Unilateral ... |
OMIM:206920 |
Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Cranium bifidum occultum, Coloboma, Joint contracture of the hand, ... |
OMIM:136760 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Jaundice, Abnormal serum bile acid concentration, Elevated hepatic transaminase,... |
ORPHA:79303 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatomegaly, Ascites |
ORPHA:890 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Cleft soft palate, Micrognathia, Metatarsal synostosis, Hypoplasia of proximal radiu... |
ORPHA:2756 |
Mmep Syndrome |
|
Triphalangeal thumb, Median cleft lip, Split foot, Microphthalmia, Cryptorchidism, Orofacial cleft |
ORPHA:3434 |
Disorganization, Mouse, Homolog Of |
|
Limb duplication, Cleft upper lip, Hip dislocation, Hand polydactyly, Cleft palate |
OMIM:223200 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Posterior... |
OMIM:122600 |
Hyperlipidemia, Familial Combined, 3 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... |
OMIM:144250 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Preaxial foot polydactyly, Anencephaly, Hydrocephalus, Micrognathia, Pos... |
OMIM:614120 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... |
ORPHA:247598 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevated h... |
OMIM:255120 |
Cranioectodermal Dysplasia |
|
Rhizomelia, Microdontia, Hypodontia, Taurodontia, Dolichocephaly, Prominent occiput, Frontal boss... |
ORPHA:1515 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia, Jaundice, Hepatic failure, Elevated hepatic transaminase |
OMIM:143500 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly |
ORPHA:2476 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Camptodactyly of finger, Short thorax, Finger syndactyly, Kyphosis, Vertebral segmen... |
ORPHA:2311 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Multiple Symmetric Lipomatosis |
|
Insulin resistance, Hepatomegaly |
ORPHA:2398 |
Microphthalmia, Syndromic 8 |
|
Short palpebral fissure, Cleft upper lip, Blepharophimosis, Split foot, Microphthalmia, Widely-sp... |
OMIM:601349 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... |
OMIM:606842 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Convex nasal ridge, Kyphosis, Premature graying of hair, Vertebral segmentation defect, Micrognat... |
ORPHA:2617 |
Poland Syndrome |
|
Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Synd... |
OMIM:173800 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft lip, Ankyloblepharon, Tooth agenesis, Cryptorchidism, Cleft palate |
ORPHA:1074 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Arachnodactyly, Humeroradial synostosis, Oligodactyly |
OMIM:614416 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Easily subluxated first metacarpophalangeal joints, Tapered finger, Pierre-Robin sequence, Microg... |
OMIM:311895 |
Verheij Syndrome |
|
Vertebral fusion, Long philtrum, Wide nasal bridge, Short stature, Hip dislocation, Short nose, T... |
OMIM:615583 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin, Abnormality of the pancreas, Polycystic liver disease, Hepatomegaly |
ORPHA:2924 |
Trigonocephaly 1 |
|
Long philtrum, Wide nasal bridge, High, narrow palate, Synophrys, Short nose, Microcephaly, Lumba... |
OMIM:190440 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hyperlipidemia, Hepatomegaly, Insulin-resistant diabetes mellitus, Hypertrigly... |
ORPHA:435651 |
Ulnar Hemimelia |
|
Spinal dysraphism, Sclerotic forearm bones, Humeroradial synostosis, Aplasia of metacarpal bones,... |
ORPHA:93320 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Bell-shaped thorax, Vertebral fusion, Short thorax, Myelomeningocele, Block vertebrae, Vertebral ... |
OMIM:613686 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin, Ascites, Elevated circulating alkaline phosphatase concentration, Poly... |
OMIM:174050 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Hepatocellular adenoma, Elevated hepatic transaminase, Hepatocellula... |
ORPHA:370 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Holoprosencephaly, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorior... |
OMIM:611638 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Horizontal eyebrow, Long philtrum, Deep philtrum, Epicanthus, Narrow palpebral fissure, Microretr... |
OMIM:618571 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Coloboma, Foot oligodactyly, Anterior encephalocele, Bilateral cleft lip, Short ... |
OMIM:601357 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin, Hepatic failure, Jaundice, Elevated hepatic transaminase, Cholestasis,... |
OMIM:618528 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Brachycephaly, Micrognathia, Microdontia, Midface retrusion, Everted lower lip vermilion, Cupped ... |
OMIM:156200 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Insulin resistance, Diabetes mellitus, Hypoglycemia, Hypercholesterolemia |
ORPHA:181393 |
Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Hyperbilirubinemia, Splenomegaly |
OMIM:179700 |
Renal Agenesis, Bilateral |
|
Non-midline cleft lip, Epicanthus, Tracheoesophageal fistula, Abnormal intestine morphology, Sire... |
ORPHA:1848 |
Pierre Robin Syndrome And Oligodactyly |
|
Hand oligodactyly, Micrognathia, Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Microdontia, Supernumerary tooth, Diastema, Joint hypermobility, Agenesis of molar, Del... |
OMIM:619718 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Hemochromatosis, Type 4 |
|
Cirrhosis, Impaired glucose tolerance, Elevated transferrin saturation, Hepatic steatosis, Diabet... |
OMIM:606069 |
Three M Syndrome 1 |
|
Hyperlordosis, Short thorax, Increased vertebral height, Short 5th finger, Short ribs, Slender lo... |
OMIM:273750 |
Hemochromatosis Type 4 |
|
Hepatic steatosis, Cirrhosis, Increased circulating ferritin concentration, Congenital hepatic fi... |
ORPHA:139491 |
Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Spina bifida, Synostosis of carp... |
ORPHA:957 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Patellar dislocation, Epiphyseal stippling, Short neck, Sparse eyelashes, Sparse hair, Hearing im... |
OMIM:302960 |
Spondylocamptodactyly Syndrome |
|
Camptodactyly of finger, Scoliosis, Platyspondyly |
ORPHA:3180 |
Bile Acid Conjugation Defect 1 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Elevated ... |
OMIM:619232 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating alanine aminotransferase concentration, Periportal fibrosis, Decreased circu... |
OMIM:619481 |
Intellectual Disability, Wolff Type |
|
Camptodactyly of finger, Non-midline cleft lip, Thick lower lip vermilion, Clinodactyly of the 5t... |
ORPHA:3080 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Abnormality of the upper limb, Clinodactyly of the 5th finger, Oligodactyly, Almond-shaped palpeb... |
ORPHA:521308 |
Microphthalmia, Isolated 4 |
|
Absent testis, Microphthalmia, Coloboma |
OMIM:613094 |
Biemond Syndrome Type 2 |
|
Coloboma, Hypogonadism, Hydrocephalus, Hypospadias, Microphthalmia, Hypogonadotropic hypogonadism |
ORPHA:141333 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Coloboma |
OMIM:614497 |
Otodental Syndrome |
|
Abnormal molar morphology, High-frequency sensorineural hearing impairment, Odontoma, Long philtr... |
ORPHA:2791 |
Protoporphyria, Erythropoietic, 1 |
|
Hepatic failure, Hypertriglyceridemia, Cholelithiasis, Eczema |
OMIM:177000 |
2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Hand clenching, Downslanted palpebral fissures, Coloboma, Toe syndactyly... |
ORPHA:1617 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Spina bifida, Dermatoglyphic ridges abnormal, Camptodactyly, Small... |
OMIM:211960 |
Robin Sequence-Oligodactyly Syndrome |
|
Micrognathia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, ... |
ORPHA:3104 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Insul... |
OMIM:615381 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic ridge |
OMIM:309620 |
Atkin-Flaitz Syndrome |
|
Genu valgum, Kyphosis, Prominent median palatal raphe, Exaggerated median tongue furrow, Thick lo... |
OMIM:300431 |
Coffin-Siris Syndrome 3 |
|
Hirsutism, Delayed skeletal maturation, Cleft palate, Thick eyebrow, Hearing impairment, Macroglo... |
OMIM:614608 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Short ribs, Anencephaly, Hydrocephalus, Preaxial polydactyly, Micromelia, Clef... |
OMIM:616546 |
Hartsfield Syndrome |
|
Downslanted palpebral fissures, Non-midline cleft lip, Encephalocele, Lobar holoprosencephaly, Pt... |
ORPHA:2117 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Ambiguous genitalia, Coxa valga, Hip dislocation, Metatarsus adductus, ... |
ORPHA:93322 |
Citrullinemia Type Ii |
|
Hypercholesterolemia, Hepatic fibrosis, Elevated hepatic transaminase, Hepatocellular carcinoma, ... |
ORPHA:247585 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Type II diabetes mellitus, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly... |
OMIM:616860 |
Oligodontia |
|
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... |
ORPHA:99798 |
Retinitis Pigmentosa 84 |
|
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:618220 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Spinal dysraphism, Delayed phalangeal epiphyseal ossification, Flat capital femoral epiphysis, Ca... |
OMIM:603546 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Neuronal Intranuclear Inclusion Disease |
|
Spina bifida occulta, Optic atrophy, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2289 |
Rhizomelic Chondrodysplasia Punctata |
|
Epiphyseal stippling, Limitation of joint mobility, Spina bifida occulta, Scoliosis, Abnormal met... |
ORPHA:177 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Hand clenching, Flexion contracture, Multiple joint contractures, Kyphosis, Hip di... |
OMIM:618291 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Hypercholesterolemia |
OMIM:608320 |
Clark-Baraitser syndrome |
|
Genu valgum, Kyphosis, Prominent median palatal raphe, Exaggerated median tongue furrow, Thick lo... |
OMIM:300602 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Hemivertebrae |
OMIM:608681 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, High palate, Microdontia, Abnormal metacarpal morphology, Abnorm... |
ORPHA:1307 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Genu varum, Metaphyseal irregularity, Short femoral neck, Coxa vara, Corner fracture of metaphysi... |
OMIM:184255 |
Momo Syndrome |
|
Short sternum, Downslanted palpebral fissures, Dental malocclusion, High palate, Long philtrum, E... |
OMIM:157980 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Santos Syndrome |
|
Polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Syndactyly, Preaxial polydactyly, Br... |
OMIM:613005 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Hypoplastic acetabulae, Hypoplastic ilia, Clinodactyly of the 5th finger, Spina bifida... |
OMIM:169550 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent sinusitis, Hepatosplenomegaly, Increased circulating ferritin concentration, Colitis, H... |
OMIM:613101 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceri... |
ORPHA:363400 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Genu valgum, Short thorax, Kyphosis, Spina bifida occulta, Short neck, Reduced bone mineral density |
ORPHA:2983 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow flexion contracture, Camptodactyly, Elbow contracture, Short neck, Cleft palate, Arthrogryp... |
OMIM:178110 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Ambiguous genitalia, Cleft upper lip, Joint contracture of the hand, Camptodactyly, Micromelia, L... |
OMIM:601016 |
Duane-Radial Ray Syndrome |
|
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Epicanthus, Spina bifida occulta... |
OMIM:607323 |
Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Hepatic necrosis, Elevated circulating alpha-fetoprotein concentration, Portal ... |
ORPHA:33402 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia |
ORPHA:71529 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal carpal morphology, Coxa vara, Sho... |
ORPHA:93351 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Myelopathy |
OMIM:602475 |
Ritscher-Schinzel Syndrome 1 |
|
Brachycephaly, Micrognathia, Hydrocephalus, Prominent occiput, Depressed nasal bridge, Low poster... |
OMIM:220210 |
Hemochromatosis Type 2 |
|
Abnormality of iron homeostasis, Abnormality of endocrine pancreas physiology, Elevated transferr... |
ORPHA:79230 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Foot polydactyly, Aganglionic megacolon, Retinal dystrophy, Hydrocephalus, Hand po... |
ORPHA:220493 |
Bardet-Biedl Syndrome 5 |
|
Polydactyly, Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Syndactyly, Micropeni... |
OMIM:615983 |
Intellectual Disability, Birk-Barel Type |
|
Sacral dimple, Congenital finger flexion contractures, Foot joint contracture, Incisor macrodonti... |
ORPHA:166108 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Sacral dimple, Short stature, Unilateral microphthalmos, Bilateral microphthalmos, Hirsutism, Mic... |
OMIM:619318 |
Doors Syndrome |
|
Ambiguous genitalia, Short 5th finger, Optic atrophy, Epicanthus, Short lingual frenulum, Spina b... |
ORPHA:79500 |
Winchester Syndrome |
|
Kyphosis, Generalized osteoporosis, Broad metacarpals, Carpal osteolysis, Osteolysis involving ta... |
OMIM:277950 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Intermittent jaundice, Increased serum bile acid concentration, Hepatomegaly, Intrahepatic choles... |
OMIM:243300 |
Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Abnormality of body weight, Delayed puberty, Hypoglycemia, Decreased serum... |
ORPHA:314811 |
Patent Ductus Venosus |
|
Hepatic steatosis, Hyperammonemia, Hypergalactosemia, Decreased liver function |
OMIM:601466 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Anterior beaking of lumbar vertebrae, Platyspondyly |
OMIM:271620 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Genu valgum, Widely-spaced incisors, Irregular vertebral endplates, Oligodontia, Proportionate sh... |
OMIM:601668 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia, Coloboma |
OMIM:613703 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Spina bifida, Coarse metaphyseal trabecularization, Craniofacial... |
ORPHA:3219 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Hyperlordosis, Kyphosis, Vertebral wedging, Ovoid vertebral bodies, Scoliosis, Joint hyperflexibi... |
ORPHA:40 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Intervertebral space narrowing, Short femoral neck, Kyphosis, Squared-off platyspondyl... |
OMIM:271530 |
Snijders Blok-Campeau Syndrome |
|
Enamel hypoplasia, High palate, Prominent nose, Wide nasal bridge, Widely spaced teeth, Taurodont... |
OMIM:618205 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Sensorineural hearing impairment, Short stature, Delayed eruption of t... |
ORPHA:71267 |
Congenital Generalized Lipodystrophy |
|
Cirrhosis, Increased C-peptide level, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Di... |
ORPHA:528 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Mandibular prognathia, Avascular necrosis, Kyphosis, Delayed eruption of... |
ORPHA:137834 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Abnormal erythr... |
ORPHA:264580 |
Macrophage Activation Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Increased circulating lactate dehydr... |
ORPHA:158061 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Brachycephaly, Cleft upper lip, Wide mouth, Short stature, Low posterior hairline, Ver... |
ORPHA:1394 |
Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Cutaneous finger syndactyly, Toe syndactyly, Lacrimal duct aplasia, Median cl... |
DECIPHER:46 |
Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Bifid uvula, Missing ribs, Median clef... |
OMIM:184705 |
Filippi Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Hypodontia, Microdontia, Abnormality of dental morp... |
OMIM:272440 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Glycosuria, Elevated hepatic transaminase, Postprandial hyperglycemia, Hype... |
ORPHA:2089 |
Kbg Syndrome |
|
Bilateral conductive hearing impairment, Synophrys, Short neck, Delayed skeletal maturation, Abno... |
ORPHA:2332 |
Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Increased vertebral height, Platyspondyly |
ORPHA:93304 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Broad foot, Epicanthus, Delayed eruption of teeth, Everted lower lip ver... |
ORPHA:915 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr... |
OMIM:619048 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Wide nasal bridge, Abnormal lip mo... |
ORPHA:2759 |
Cenani-Lenz Syndactyly Syndrome |
|
Enamel hypoplasia, Micrognathia, Hypodontia, Radioulnar synostosis, Metacarpal synostosis, Scolio... |
OMIM:212780 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hydrocephalus, Bifid uvula, Protruding tongue, Alveolar ridge overgrowth, Cryptorchidism, Thin ve... |
OMIM:612938 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615395 |
Isolated Klippel-Feil Syndrome |
|
Abnormal cranial nerve morphology, Spina bifida, Abnormal sacrum morphology, Abnormal vertebral s... |
ORPHA:2345 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Kyphosis, Tongue atrophy, Delayed eruption of teeth, Microtia, Poliosis, Pat... |
OMIM:141300 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased lecithin cholesterol acyl transferase level, Hypertriglyceridemia, Decreased HDL choles... |
OMIM:245900 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Vertebral segmentation defect, Hip dysplasia, Preaxia... |
ORPHA:1988 |
Osteogenesis Imperfecta, Type Xii |
|
Dentinogenesis imperfecta, High palate, Recurrent fractures, Hyperextensibility of the finger joi... |
OMIM:613849 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Genu valgum, Platyspondyly |
OMIM:184095 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Hypertriglyceridemia, Insulin resistance, Hyperlipidemia |
OMIM:617885 |
3C Syndrome |
|
Kyphosis, Wide nasal bridge, Death in infancy, Micrognathia, Short stature, Macrocephaly, Hydroce... |
ORPHA:7 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Vertebral segmentation defect, Vertebral fusion |
OMIM:618845 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Jaundice... |
ORPHA:79302 |
Acrofacial Dysostosis, Catania Type |
|
Spina bifida occulta, Single transverse palmar crease, Short palm |
OMIM:101805 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Delayed cranial suture closure, Humeroradial synostosis, Micrognathia, Elbow flexion contracture,... |
OMIM:151050 |
Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... |
ORPHA:66637 |
Bruck Syndrome 1 |
|
Knee flexion contracture, Increased susceptibility to fractures, Protrusio acetabuli, Hip contrac... |
OMIM:259450 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Decreased circulating ceruloplasmin concentration, Increased circulating copper concen... |
ORPHA:209919 |
Brachyolmia, Maroteaux Type |
|
Scoliosis, Abnormal form of the vertebral bodies, Platyspondyly |
ORPHA:93302 |
Cenani-Lenz Syndrome |
|
Downslanted palpebral fissures, Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia ... |
ORPHA:3258 |
Non-Distal Trisomy 10Q |
|
Brachycephaly, Aplasia/Hypoplasia affecting the eye, Convex nasal ridge, High palate, Short statu... |
ORPHA:1695 |
Meckel Syndrome, Type 10 |
|
Sacral dimple, Dilated fourth ventricle, Molar tooth sign on MRI, Cerebellar hypoplasia, Ulnar de... |
OMIM:614175 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Ambiguous genitalia, Cleft upper lip, Encephalocele, Anophthalmia, Microphthalmia, C... |
OMIM:613885 |
Cofs Syndrome |
|
Camptodactyly of finger, Sensorineural hearing impairment, Wide nasal bridge, Death in infancy, A... |
ORPHA:1466 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Hepatocellular carcinoma, Hep... |
ORPHA:158057 |
Momo Syndrome |
|
Thick upper lip vermilion, Dental malocclusion, Brachycephaly, Abnormal bone ossification, High p... |
ORPHA:2563 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Camptodactyly of finger, Dental malocclusion, Moderately short stature, Irregular vertebral endpl... |
OMIM:612350 |
Braddock Syndrome |
|
Short stature, Micrognathia, Short neck, Scoliosis, Abnormal hair pattern, Intrauterine growth re... |
ORPHA:52047 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Agenesis of incisor, Enamel hypomineralization, Widely spaced teeth, Increase... |
ORPHA:3352 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Hypertriglyceridemia, Hypoa... |
OMIM:619013 |
Proximal 16P11.2 Microduplication Syndrome |
|
Sparse eyebrow, Short stature, Microtia, Abnormality of the hairline, Frontal bossing, Thin upper... |
ORPHA:370079 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pancrea... |
ORPHA:79084 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Brachycephaly, Wide nasal bridge, Micrognathia, Synophrys, Recurrent sinusitis, Supernumerary nip... |
OMIM:213980 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Short toe, Short 5th metacarpal, Prominent sternum, Clinodactyly of the 5th fin... |
OMIM:617877 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hepatic steatosis, Diabetes mellitus, Abnormal circulating lipid concentration, Membranoprolifera... |
OMIM:608709 |
Pallister-Hall-Like Syndrome |
|
Short ribs, Toe syndactyly, Micrognathia, Hydrocephalus, Hip dislocation, Postaxial foot polydact... |
OMIM:241800 |
Otodental Dysplasia |
|
Enamel hypoplasia, Sensorineural hearing impairment, Long philtrum, Delayed eruption of teeth, Pu... |
OMIM:166750 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Ketotic hypoglycemia, Elevated hepatic transam... |
ORPHA:79240 |
Autosomal Dominant Robinow Syndrome |
|
Camptodactyly of finger, Bifid tongue, Wide nasal bridge, Micrognathia, Fingernail dysplasia, Hip... |
ORPHA:3107 |
Hall-Riggs Syndrome |
|
Prominent nose, Thick hair, Wide mouth, Delayed eruption of teeth, Wide nasal bridge, Thick vermi... |
ORPHA:2107 |
Mpi-Cdg |
|
Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Abnormal circulating enzyme concentration or act... |
ORPHA:79319 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Genu valgum, Molar tooth sign on MRI, Clinodactyly, Spindle-shaped finger, Abnormal vertebral mor... |
ORPHA:166024 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Coach Syndrome 2 |
|
Hepatic fibrosis, Elevated hepatic transaminase, Portal fibrosis, Elevated circulating creatinine... |
OMIM:619111 |
Microcephaly-Micromelia Syndrome |
|
Short tibia, Short palpebral fissure, Absent thumb, Aqueductal stenosis, Humeroradial synostosis,... |
OMIM:251230 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Clinodactyly of the 5th finger, Radioulnar synostosi... |
ORPHA:3268 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Underdeveloped nasal alae, Sparse lateral eyebrow, Long philtrum, Avascular necrosis of the capit... |
OMIM:190351 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... |
ORPHA:2790 |
Joubert Syndrome 18 |
|
Molar tooth sign on MRI, Arrhinencephaly, Camptodactyly, Kyphoscoliosis, Occipital encephalocele,... |
OMIM:614815 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Knee flexion contracture, Flexion contracture, Prominent nose, Long philtrum, Joint contracture o... |
OMIM:214150 |
Fanconi-Bickel Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... |
ORPHA:2088 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Delayed cranial suture closure, Bifid tongue, Wide nasal bridge, Micrognathia, Midface retrusion,... |
OMIM:268310 |
Brachydactyly-Syndactyly Syndrome |
|
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... |
OMIM:610713 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, Triphalangeal thumb, 11 pairs of ribs, High palate, Absent forearm, Micrognathia, Cl... |
OMIM:201170 |
Hepatocellular Carcinoma |
|
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis |
OMIM:114550 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Wrist swelling, Flat capital femoral epiphysis, Camptodactyly, Generalized osteoporosis, Irregula... |
ORPHA:1159 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Sparse body hair, Alopecia, Hypoplastic toenails, Sparse eyebrow, Microdontia, Abnormality of den... |
ORPHA:2722 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Cleft palate |
OMIM:120433 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Upper limb phocomelia, Syndactyly, Cleft palate, Abnormal hip bone morphology |
ORPHA:294975 |
Oculodentodigital Dysplasia |
|
Conductive hearing impairment, Selective tooth agenesis, Microdontia, Taurodontia, Hip dislocatio... |
OMIM:164200 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Periportal fibrosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulatin... |
OMIM:619484 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Underdeveloped nasal alae, High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Mac... |
OMIM:618825 |
Anauxetic Dysplasia 2 |
|
Hyperlordosis, Flexion contracture, Small nail, Short stature, Posterior wedging of vertebral bod... |
OMIM:617396 |
Pierpont Syndrome |
|
Brachycephaly, High anterior hairline, Macrotia, Widely spaced teeth, Primary microcephaly, Uplif... |
ORPHA:487825 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Diastrophic Dysplasia |
|
Genu valgum, Hip contracture, Patellar dislocation, Short long bone, Talipes equinovarus, Short f... |
OMIM:222600 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Iris coloboma, Preaxial polydactyly, Chorioretinal coloboma, Retinal coloboma |
ORPHA:2921 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal irregularity, Sclerotic humeral metaphysis, Coxa valga, Osteoporotic tarsals, Metaphy... |
OMIM:609052 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, High palate, Median cleft lip, Syndactyly, Cleft palate, Telecanthus |
OMIM:300484 |
Cleidocranial Dysplasia |
|
Tapered finger, Hypoplastic inferior ilia, Spina bifida occulta, Abnormal rib morphology, Genu va... |
ORPHA:1452 |
Rubinstein-Taybi Syndrome 2 |
|
Retrognathia, Dental malocclusion, Talon cusp, Convex nasal ridge, Narrow palate, High palate, Pr... |
OMIM:613684 |
Dentin Dysplasia, Type I |
|
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... |
OMIM:125400 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Decreased serum bile acid con... |
OMIM:214950 |
Hypobetalipoproteinemia, Familial, 1 |
|
Elevated circulating alanine aminotransferase concentration, Decreased LDL cholesterol concentrat... |
OMIM:615558 |
Developmental And Epileptic Encephalopathy 80 |
|
Triphalangeal thumb, Tapered finger, High palate, Long philtrum, Wide mouth, Micrognathia, Tented... |
OMIM:618580 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Optic pit, Anophthalmia, Iris coloboma, Microphthalmia, Chorioretinal coloboma |
OMIM:616428 |
Meckel Syndrome 13 |
|
Micrognathia, Occipital encephalocele, Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:617562 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Smith-Magenis Syndrome |
|
Brachycephaly, Conductive hearing impairment, Wide nasal bridge, Micrognathia, Synophrys, Taurodo... |
ORPHA:819 |
Odontochondrodysplasia |
|
Retrognathia, Dentinogenesis imperfecta, Short stature, Delayed eruption of teeth, Death in infan... |
ORPHA:166272 |
Hyperlipoproteinemia, Type I |
|
Jaundice, Pancreatitis, Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemi... |
OMIM:238600 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Synophrys, Short philtrum, Long eyelashes, Large earlobe, Everted lower lip vermili... |
ORPHA:411986 |
Trichorhinophalangeal Syndrome, Type I |
|
Ivory epiphyses of the distal phalanges of the hand, Leukonychia, Delayed eruption of teeth, Micr... |
OMIM:190350 |
Symbrachydactyly Of Hands And Feet |
|
Vertebral segmentation defect, Scoliosis, Abnormality of the humeroulnar joint |
ORPHA:1570 |
Pparg-Related Familial Partial Lipodystrophy |
|
Splenomegaly, Cirrhosis, Hyperuricemia, Maternal diabetes, Insulin resistance, Hepatic steatosis,... |
ORPHA:79083 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Optic atrophy, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Pos... |
ORPHA:1106 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hyperglycinemia, El... |
OMIM:619386 |
Acquired Generalized Lipodystrophy |
|
Cirrhosis, Abnormal circulating lipid concentration, Hyperinsulinemia, Insulin resistance, Hepati... |
ORPHA:79086 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Underdeveloped nasal alae, High palate, Delayed eruption of teeth, Synophrys, Abnormality of dent... |
ORPHA:2025 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Midface retrusion, Posteriorly rotated ears, Postnatal growth retardation, Macroglossia, Short no... |
OMIM:301040 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... |
OMIM:601820 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal antihelix morphology, Biparietal narrowing, Hip dislocation, Abnormal toenail morphology... |
ORPHA:1005 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Absent thumb, Cleft upper lip, High palate, Hypoplasia of the radius, Micrognathia, Hand oligodac... |
OMIM:602418 |
Kapur-Toriello Syndrome |
|
Hypoplastic labia majora, Hypoplasia of penis, Intestinal malrotation, Iris coloboma, Orofacial c... |
ORPHA:2328 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Spina bifida occulta, Scoliosis, Bicoronal synostosis, Lambdoidal cranios... |
OMIM:618736 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatic failure, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hyperinsulinemic hypoglycemia, Hepatom... |
OMIM:602579 |
Primary Lipodystrophy |
|
Cirrhosis, Splenomegaly, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Hyperl... |
ORPHA:90970 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Prolonged neonatal jaundice, Reduced circulating growth hormone concentration, Decreased serum in... |
OMIM:262400 |
Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly |
ORPHA:293 |
Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Decreased LDL cholesterol concentration, Pancreatitis, Hyperlipoproteinem... |
OMIM:615947 |
Osteoglosphonic Dysplasia |
|
Abnormal bone ossification, Rhizomelia, Micrognathia, Protruding ear, Severe short stature, Multi... |
ORPHA:2645 |
Monosomy 18P |
|
Abnormal antihelix morphology, Brachycephaly, Wide nasal bridge, Micrognathia, Holoprosencephaly,... |
ORPHA:1598 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Genu varum, Intervertebral space narrowing, Irregular vertebral endplates, Genu valgum, Decreased... |
OMIM:609223 |
Poland Syndrome |
|
Spina bifida occulta, Short neck, Abnormal rib morphology, Absent hand, Reduced bone mineral dens... |
ORPHA:2911 |
Leber Congenital Amaurosis 9 |
|
Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p... |
OMIM:608553 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
2-3 toe syndactyly, Short 5th finger, Coloboma, Micrognathia, Abnormal optic disc morphology, Hip... |
ORPHA:508498 |
Vertebral Hypoplasia With Lumbar Kyphosis |
|
Lumbar kyphosis, Vertebral hypoplasia |
OMIM:192900 |
Trisomy 4P |
|
Camptodactyly of finger, Abnormal antihelix morphology, Radial club hand, Macrotia, Short stature... |
ORPHA:1738 |
Kleefstra Syndrome 1 |
|
Natal tooth, Synophrys, Macroglossia, Brachydactyly, Everted lower lip vermilion, Single transver... |
OMIM:610253 |
Dysbetalipoproteinemia |
|
Hypercholesterolemia, Hepatic steatosis, Diabetes mellitus, Acute pancreatitis, Increased LDL cho... |
ORPHA:412 |
Triploidy |
|
Meningocele, Non-midline cleft lip, Ambiguous genitalia, Aplasia/Hypoplasia affecting the eye, Fi... |
ORPHA:3376 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Small nail, High palate, Webbed neck, Spina bifida, Micrognathia, Bipari... |
ORPHA:99776 |
Congenital Disorder Of Deglycosylation 2 |
|
High palate, Micrognathia, Macroglossia, Broad thumb, Hamartoma of tongue, Sandal gap, Ulnar devi... |
OMIM:619775 |
Tangier Disease |
|
Left ventricular hypertrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased ci... |
OMIM:205400 |
Dubin-Johnson Syndrome |
|
Abnormality of the liver, Jaundice, Biliary tract abnormality, Hepatomegaly, Conjugated hyperbili... |
ORPHA:234 |
Temtamy Syndrome |
|
Short toe, Genu varum, Thick lower lip vermilion, Micrognathia, Clinodactyly of the 5th finger, I... |
ORPHA:1777 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Macular coloboma, Retinal coloboma |
OMIM:107550 |
Carpenter Syndrome 1 |
|
Coxa valga, Optic atrophy, Toe syndactyly, Flared iliac wing, Camptodactyly, Metatarsus adductus,... |
OMIM:201000 |
Lowry-Maclean Syndrome |
|
Convex nasal ridge, Delayed eruption of teeth, Microcephaly, Cleft palate, Craniosynostosis, Intr... |
OMIM:600252 |
Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Blepharocheilodontic Syndrome 1 |
|
Conical tooth, Lagophthalmos, Cleft upper lip, Neural tube defect, Hypodontia, Clinodactyly, Anal... |
OMIM:119580 |
Acrocraniofacial Dysostosis |
|
Triphalangeal thumb, Genu valgum, Coxa valga, Tapered finger, Short 1st metacarpal, Flared iliac ... |
ORPHA:949 |
Distal Monosomy 7Q36 |
|
Symphalangism affecting the phalanges of the hand, Non-midline cleft lip, Optic atrophy, Wide mou... |
ORPHA:1636 |
Robinow Syndrome |
|
Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Midface retrusion, Nail ... |
ORPHA:97360 |
Bartsocas-Papas Syndrome 1 |
|
Short phalanx of finger, Ambiguous genitalia, Absent thumb, Micrognathia, Hypoplastic labia major... |
OMIM:263650 |
Warburg Micro Syndrome 1 |
|
Macrotia, Low-set ears, Wide nasal bridge, Short stature, Micrognathia, Joint hypermobility, Hype... |
OMIM:600118 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatic failure, Elevated hepatic transaminase, Transient hyperlipidemia, Hypoglycemia, Hepatomegaly |
ORPHA:156 |
Codas Syndrome |
|
Sensorineural hearing impairment, Short stature, Delayed eruption of teeth, Crumpled ear, Abnorma... |
ORPHA:1458 |
Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Stiff knee, Premature... |
ORPHA:93284 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... |
OMIM:251880 |
Anencephaly 2 |
|
Short palpebral fissure, Anophthalmia, Cleft maxillary alveolar ridge, Anencephaly, Median cleft ... |
OMIM:619452 |
Incontinentia Pigmenti |
|
Conical tooth, Delayed eruption of teeth, Supernumerary nipple, Breast aplasia, Nail dysplasia, C... |
OMIM:308300 |
Progressive Pseudorheumatoid Dysplasia |
|
Camptodactyly of finger, Genu varum, Coxa vara, Joint contracture of the hand, Enlarged epiphyses... |
OMIM:208230 |
Bardet-Biedl Syndrome 4 |
|
Polydactyly, Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Retinal degeneration,... |
OMIM:615982 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic failure, Hepatic fibrosis, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly |
OMIM:616719 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia, Flexion contracture, Prominent nose, Turricephaly, Hip dislocation, Dolichocephaly, Tho... |
OMIM:203550 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Hepa... |
OMIM:605479 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Elevated ci... |
OMIM:601847 |
Amelogenesis Imperfecta |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... |
ORPHA:88661 |
Osteogenesis Imperfecta, Type Vi |
|
Protrusio acetabuli, Biconcave vertebral bodies, Increased susceptibility to fractures, Joint lax... |
OMIM:613982 |
Down Syndrome |
|
Narrow palate, Epicanthus, Thick lower lip vermilion, Microdontia, Aganglionic megacolon, Clinoda... |
ORPHA:870 |
Terminal Osseous Dysplasia |
|
Camptodactyly of finger, Short toe, Mesomelic leg shortening, Epicanthus, Camptodactyly of toe, C... |
OMIM:300244 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Ethmoidal encephalocele, Cleft upper lip, Broad proximal phalanges of the hand, Optic nerve hypop... |
OMIM:607597 |
Phenobarbital Embryopathy |
|
Epicanthus, Aplasia/Hypoplasia of fingers, Hypospadias, Brachydactyly, Unilateral cleft lip |
ORPHA:1919 |
Pierpont Syndrome |
|
Brachycephaly, Midface retrusion, Everted lower lip vermilion, Large fleshy ears, Short neck, Smo... |
OMIM:602342 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Optic atrophy, Slender long bone, Spina bifida occulta, Joint hyperflexibility, Cubitus valgus, R... |
ORPHA:1185 |
Autosomal Recessive Amelia |
|
Non-midline cleft lip, Micrognathia, Acromelia of the lower limbs, Hypoplasia of penis, Amelia in... |
ORPHA:1027 |
Joubert Syndrome 16 |
|
Polydactyly, Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
Hallermann-Streiff Syndrome |
|
Brachycephaly, Selective tooth agenesis, Micrognathia, Tracheomalacia, Everted lower lip vermilio... |
OMIM:234100 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Elevated hepatic transaminase, Steatorrhea, Hepatic steatosis, Hypocholeste... |
ORPHA:71 |
Witkop Syndrome |
|
Small nail, Fine hair, Nail pits, Agenesis of permanent teeth, Ridged nail, Concave nail, Microdo... |
OMIM:189500 |
Aredyld Syndrome |
|
Sparse body hair, Mandibular prognathia, Aplasia/Hypoplasia of the eyebrow, Short stature, Abnorm... |
ORPHA:1133 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Tetrasomy 12P |
|
Thick upper lip vermilion, Sparse eyebrow, Long philtrum, Short stature, Delayed eruption of teet... |
ORPHA:884 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism, Jaundice, Hyperbil... |
ORPHA:64743 |
Cockayne Syndrome Type 2 |
|
Enamel hypoplasia, Flexion contracture, Mandibular prognathia, Delayed eruption of primary teeth,... |
ORPHA:90322 |
Charlie M Syndrome |
|
Triphalangeal thumb, Non-midline cleft lip, Finger syndactyly, Micrognathia, Abnormal metacarpal ... |
ORPHA:1406 |
Trichorhinophalangeal Syndrome Type 1 And 3 |
|
Camptodactyly of finger, Hyperlordosis, Sparse eyebrow, Macrotia, High palate, Long philtrum, Ava... |
ORPHA:77258 |
Odontochondrodysplasia 1 |
|
Short phalanx of finger, Flared iliac wing, Polycystic kidney dysplasia, Platyspondyly, Metaphyse... |
OMIM:184260 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Craniometadiaphyseal Dysplasia |
|
Genu varum, Abnormally large globe, Mandibular prognathia, High palate, Genu valgum, Natal tooth,... |
OMIM:269300 |
Congenital Isolated Acth Deficiency |
|
Hepatitis, Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Hypoglycemi... |
ORPHA:199296 |
Orofaciodigital Syndrome Xiv |
|
Bifid tongue, Micrognathia, Broad hallux, Holoprosencephaly, Postaxial hand polydactyly, Cleft pa... |
OMIM:615948 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperuricemia, Hyperlipidemia |
ORPHA:364 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Chorioretinal coloboma, Umbilical hernia, Abnormality of retinal pigmentation |
ORPHA:2196 |
Fryns Microphthalmia Syndrome |
|
Macrotia, Anophthalmia, Neural tube defect, Microphthalmia, Abnormality of the vertebral column, ... |
OMIM:600776 |
Intellectual Disability And Myopathy Syndrome |
|
Incisor macrodontia, Dental malocclusion, Achilles tendon contracture, Thin upper lip vermilion, ... |
OMIM:619719 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Rhizomelia, Short stature, Vertebral segmentation defect, Frontal bossing, Depressed nasal bridge... |
OMIM:617661 |
Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Downslanted palpebral fissures, Non-midline cleft lip, Aplasia/Hypoplasi... |
ORPHA:1784 |
Metatropic Dysplasia |
|
Flexion contracture, Flared iliac wing, Long coccyx, Narrow greater sciatic notch, Arthrogryposis... |
OMIM:156530 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Brachycephaly, Kyphosis, Wide mouth, Spinal rigidity, Micrognathia, Wide nasal bridge, Short phil... |
ORPHA:2062 |
Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Aplasia/Hypoplasia affecting the eye, Aplasia/Hypoplasia of the eyebrow,... |
ORPHA:1794 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:294 |
Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Finger syndactyly |
ORPHA:1514 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
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Spina bifida occulta, Optic disc pallor, Tethered cord |
OMIM:615281 |
Porphyria Cutanea Tarda, Type I |
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Hepatic fibrosis, Eczema |
OMIM:176090 |
Mucopolysaccharidosis, Type Iva |
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Pointed proximal second through fifth metacarpals, Coxa valga, Lumbar kyphosis, Short neck, Ovoid... |
OMIM:253000 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
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Short neck, Abnormal vertebral morphology |
ORPHA:2015 |
Joubert Syndrome 1 |
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Optic disc pallor, Epicanthus, Retinal dystrophy, Clinodactyly, Macroglossia, Postaxial foot poly... |
OMIM:213300 |
Septopreoptic Holoprosencephaly |
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Ethmoidal encephalocele, Abnormal vertebral morphology, Hypoplasia of the pons, Abnormal midbrain... |
ORPHA:280195 |
Craniolenticulosutural Dysplasia |
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Delayed eruption of teeth, Microdontia, Smooth philtrum, Coarse hair, Sparse hair, Frontal bossin... |
ORPHA:50814 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
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Delayed cranial suture closure, Brachycephaly, Conductive hearing impairment, Wide nasal bridge, ... |
ORPHA:2780 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
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Fused cervical vertebrae, Short neck, Cervical C2/C3 vertebral fusion, Scoliosis |
OMIM:214300 |
Zechi-Ceide Syndrome |
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Short palpebral fissure, Cleft upper lip, Blepharophimosis, Oligodontia, Narrow palpebral fissure... |
OMIM:612916 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
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Ankyloblepharon, Cleft palate, Cleft upper lip |
OMIM:106250 |
Micro Syndrome |
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High palate, Optic atrophy, Micrognathia, Hypoplastic labia minora, Hypoplasia of penis, Short ph... |
ORPHA:2510 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Irregular dentition, Wide mouth, Retinal degeneration, Synophrys, Macular atrophy, Irregular epip... |
OMIM:619260 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
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Optic atrophy, Joint hyperflexibility, Brachydactyly, Short distal phalanx of finger, Osteoporosis |
ORPHA:2787 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
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High palate, Long philtrum, Sensorineural hearing impairment, Delayed eruption of teeth, Relative... |
OMIM:616354 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
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Brachycephaly, Abnormality of cranial sutures, Increased bone mineral density, Micrognathia, Shor... |
ORPHA:163649 |
Czeizel-Losonci Syndrome |
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Thoracolumbar scoliosis, Myelomeningocele, 2-3 finger syndactyly, Spina bifida, Hydrocephalus, Cl... |
ORPHA:2437 |
Familial Median Cleft Of The Upper And Lower Lips |
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Irregular dentition, Cleft lower lip, Cleft upper lip, Fusion of gums, Diastema, Median cleft lip |
ORPHA:401942 |
Arthrogryposis, Distal, Type 1C |
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Camptodactyly of finger, Wrist flexion contracture, Elbow flexion contracture, Bifid uvula, Cleft... |
OMIM:619110 |
Metatropic Dysplasia |
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Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Coarse metaphy... |
ORPHA:2635 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
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Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Jaundice... |
OMIM:617049 |
Hypodontia-Dysplasia Of Nails Syndrome |
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Conical tooth, Hypoplastic toenails, Delayed eruption of teeth, Hypodontia, Abnormality of dental... |
ORPHA:2228 |
Osteopoikilosis And Dacryocystitis |
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Osteopoikilosis |
OMIM:166705 |
Liver Failure, Infantile, Transient |
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Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ja... |
OMIM:613070 |
Fetal Alcohol Syndrome |
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Non-midline cleft lip, Short stature, Vertebral segmentation defect, Micrognathia, Microdontia, B... |
ORPHA:1915 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Hypoketotic hypoglycemia, Elevated hepatic transaminase, Elevated circulating creatine kinase con... |
OMIM:600649 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Hepatic failure, Hepatic steatosis, Increased blood urea nitrogen, Hypoglycemia, Hepatomegaly, El... |
OMIM:617872 |
Split-Hand/Foot Malformation 1 |
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Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Split foot, Hand ... |
OMIM:183600 |
49,Xxxxy Syndrome |
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Wide nose, Brachycephaly, Mandibular prognathia, Depressed nasal ridge, Short stature, Delayed er... |
ORPHA:96264 |
Trisomy 8Q |
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Camptodactyly of finger, Non-midline cleft lip, Myelomeningocele, Bifid tongue, High palate, Micr... |
ORPHA:1752 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
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Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
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Sacral dimple, Incisor macrodontia, Long philtrum, Short stature, Long eyelashes, Narrow mouth, T... |
OMIM:615502 |
Gombo Syndrome |
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Clinodactyly, Radial deviation of finger, Microphthalmia, Brachydactyly |
OMIM:233270 |
Florid Cemento-Osseous Dysplasia |
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Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Avascula... |
ORPHA:83451 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, N... |
ORPHA:293964 |
Atelosteogenesis, Type I |
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Vertebral hypoplasia, Micrognathia, Distal tapering femur, Elbow dislocation, Short femur, Short ... |
OMIM:108720 |
Zimmermann-Laband Syndrome |
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Micrognathia, Bifid uvula, Hypoplastic fingernail, Large fleshy ears, Short neck, Cleft palate, T... |
ORPHA:3473 |
Leber Congenital Amaurosis 8 |
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